• <em>C12orf57</em> pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child
• <em>FAM46A</em> mutations are responsible for autosomal recessive osteogenesis imperfecta
• 3-M syndrome: a report of three Egyptian cases with review of the literature
• A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS
• A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
• A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
• A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family
• A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly
• A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome
• A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis
• A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
• A report of three patients with MMP2 associated hereditary osteolysis
• Adams-Oliver syndrome: further evidence of an autosomal recessive variant
• Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome
• An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt
• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
• Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
• Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
• Brachydactyly
• Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome
• Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?
• Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment
• Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
• Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
• Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia
• Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations
• COFS syndrome with familial 1;16 translocation
• Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome?
• Deficient 5 alpha-reductase due to mutant enzyme with reduced affinity to steroid substrate
• Diagnostic significance of dermatoglyphics in certain birth defects
• Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection
• Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families
• Expanding the phenome and variome of skeletal dysplasia
• Expanding the phenotypic spectrum of the Baller-Gerold syndrome
• Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
• Familial crossed polysyndactyly
• Feingold syndrome
• Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
• GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
• GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva
• Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
• Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family
• Heart-hand syndrome II. A report of Tabatznik syndrome with new findings
• Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types
• Heterozygous expression of Lesch-Nyhan syndrome clinical and ultrastructural studies
• Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
• How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
• Human equivalent of mouse disorganization: Has the case been made?
• Hypogenitalism in the acrocallosal syndrome
• Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
• Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays
• Karyotype/phenotype correlation in females with short stature
• Lenz microphthalmia syndrome: three additional cases with rare associated anomalies
• Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia
• Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
• Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
• LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
• Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
• Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome
• Molecular analysis of androgen resistance syndromes in Egyptian patients
• Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
• Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
• Mutations in ANTXR1 cause GAPO syndrome
• Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling
• Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome
• Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum
• Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus
• Neu Laxova syndrome in two Egyptian families
• New autosomal dominant radial ray hypoplasia syndrome
• New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia
• Ocular manifestations in Temtamy syndrome: A case report
• Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations
• Oral manifestations and histochemical studies of the gingiva in Down syndrome
• Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea
• Orodental, ear and eye anomalies in Egyptian Brachmann de Lange syndrome cases
• Phenotypic and cytogenetic spectrum of 9p trisomy
• Phenotypic and molecular insights into PQBP1-related intellectual disability
• Polydactyly of the hands. Recommendation for expanded classification
• Postaxial polydactyly of the hand in Japanese patients: Case series reports
• ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION
• Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings
• Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
• Syndactylies and polydactylies: embryological overview and suggested classification
• Synpolydactyly: clinical and molecular advances
• Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling
• Temtamy syndrome caused by a new <em>C12orf57</em> variant in a Chinese boy, including pedigree analysis and literature review
• Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review
• Temtamy-like syndrome associated with translocation of 2p24 and 9q32
• Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate
• The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years
• The DR syndrome or the Okihiro syndrome?
• The epidemiology, genetics and future management of syndactyly
• The oro dental manifestations in Turner syndrome
• The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
• Transposition of external genitalia and associated malformations
• Two different Temtamy syndromes
• Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome
• Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
• Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study